Results of Fabry Disease Screening in Male Pre-End Stage Renal Disease Patients with Unknown Etiology Found Through the Platform of a Chronic Kidney Disease Education Program in a Northern Taiwan Medical Center
Background/Aims: Fabry disease (FD), a rare x-lined genetic disorder is a cause of renal deterioration. The phenotype of FD is highly variable and nonspecific, and correct diagnosis has always been delayed. We aimed to explore the prevalence and clinical presentation of FD in this high-risk male pop...
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Veröffentlicht in: | Kidney & blood pressure research 2018-01, Vol.43 (5), p.1636-1645 |
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creator | Lin, Cheng-Jui Chien, Yin-Hsiu Lai, Thung-S. Shih, Hong-Mou Chen, Yi-Chou Pan, Chi-Feng Chen, Han-Hsiang Hwu, Wuh-Liang Wu, Chih-Jen |
description | Background/Aims: Fabry disease (FD), a rare x-lined genetic disorder is a cause of renal deterioration. The phenotype of FD is highly variable and nonspecific, and correct diagnosis has always been delayed. We aimed to explore the prevalence and clinical presentation of FD in this high-risk male population in a Northern Taiwan medical center. Methods: This is the first study to survey the incidence of FD in this high-risk population through the platform of a chronic kidney disease (CKD) education program in Asia. A total of 1,012 male patients with unknown CKD causes were screened using an assay of alpha-galactosidase A activity (α-Gal A) by dried blood spots (DBS). A final GLA gene analysis was also done for those with low enzyme activity. Results: We identified two new patients with classic FD and four patients with late-onset FD. One novel GLA mutation with c.413 G>A was found in one classic FD patient (index 5). The prevalence of FD is about 0.59 % (6 in 1,012) in the high-risk population group with CKD. The clinical symptoms of FD patients are nonspecific except in those with various degrees of renal failure. Those patients’ correct diagnosis was delayed, taking years and even decades. Three patients received enzyme replacement therapy and one started regular hemodialysis due to persistent renal function deterioration. Another two patients were found from family screening through a new index. In addition, a false negative result occurred in one patient who was proved to have FD by his kidney pathology as determined by this screening. Conclusion: FD is not such as rare a disease and its prevalence is greater in this high-risk male population. Clinicians need to be aware that FD should be included in the differential diagnosis in CKD with unknown etiology. |
doi_str_mv | 10.1159/000494678 |
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The phenotype of FD is highly variable and nonspecific, and correct diagnosis has always been delayed. We aimed to explore the prevalence and clinical presentation of FD in this high-risk male population in a Northern Taiwan medical center. Methods: This is the first study to survey the incidence of FD in this high-risk population through the platform of a chronic kidney disease (CKD) education program in Asia. A total of 1,012 male patients with unknown CKD causes were screened using an assay of alpha-galactosidase A activity (α-Gal A) by dried blood spots (DBS). A final GLA gene analysis was also done for those with low enzyme activity. Results: We identified two new patients with classic FD and four patients with late-onset FD. One novel GLA mutation with c.413 G>A was found in one classic FD patient (index 5). The prevalence of FD is about 0.59 % (6 in 1,012) in the high-risk population group with CKD. The clinical symptoms of FD patients are nonspecific except in those with various degrees of renal failure. Those patients’ correct diagnosis was delayed, taking years and even decades. Three patients received enzyme replacement therapy and one started regular hemodialysis due to persistent renal function deterioration. Another two patients were found from family screening through a new index. In addition, a false negative result occurred in one patient who was proved to have FD by his kidney pathology as determined by this screening. Conclusion: FD is not such as rare a disease and its prevalence is greater in this high-risk male population. Clinicians need to be aware that FD should be included in the differential diagnosis in CKD with unknown etiology.</description><identifier>ISSN: 1420-4096</identifier><identifier>EISSN: 1423-0143</identifier><identifier>DOI: 10.1159/000494678</identifier><identifier>PMID: 30380558</identifier><language>eng</language><publisher>Basel, Switzerland: S. Karger AG</publisher><subject>a-Galactosidase ; Adult ; Aged ; Aged, 80 and over ; alpha-Galactosidase - blood ; alpha-Galactosidase - genetics ; Cardiomyopathy ; Chronic kidney disease ; Diagnosis ; Diagnosis, Differential ; Differential diagnosis ; Education ; Enzymatic activity ; Enzyme activity ; Enzymes ; Etiology ; Fabry disease ; Fabry Disease - diagnosis ; Fabry Disease - epidemiology ; Fabry's disease ; Galactosidase ; Genetic disorders ; Health care facilities ; Hemodialysis ; High-risk screening ; Humans ; Isoenzymes - blood ; Isoenzymes - genetics ; Kidney diseases ; Kidney Failure, Chronic - etiology ; Kidneys ; Male ; Mass Screening ; Medical screening ; Middle Aged ; Mutation ; Original Paper ; Patients ; Phenotypes ; Population ; Prevalence ; Recombinant Proteins - blood ; Recombinant Proteins - genetics ; Renal failure ; Renal function ; Renal Insufficiency, Chronic ; Risk ; Signs and symptoms ; Systematic review ; Taiwan ; Young Adult</subject><ispartof>Kidney & blood pressure research, 2018-01, Vol.43 (5), p.1636-1645</ispartof><rights>2018 The Author(s). Published by S. Karger AG, Basel</rights><rights>2018 The Author(s). Published by S. Karger AG, Basel.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c435t-aef1ea4cc96fe463f9beb8f2425e9c52490eea7b4e16fd1106a8a38a96dc27c33</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,864,2102,27635,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/30380558$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Lin, Cheng-Jui</creatorcontrib><creatorcontrib>Chien, Yin-Hsiu</creatorcontrib><creatorcontrib>Lai, Thung-S.</creatorcontrib><creatorcontrib>Shih, Hong-Mou</creatorcontrib><creatorcontrib>Chen, Yi-Chou</creatorcontrib><creatorcontrib>Pan, Chi-Feng</creatorcontrib><creatorcontrib>Chen, Han-Hsiang</creatorcontrib><creatorcontrib>Hwu, Wuh-Liang</creatorcontrib><creatorcontrib>Wu, Chih-Jen</creatorcontrib><title>Results of Fabry Disease Screening in Male Pre-End Stage Renal Disease Patients with Unknown Etiology Found Through the Platform of a Chronic Kidney Disease Education Program in a Northern Taiwan Medical Center</title><title>Kidney & blood pressure research</title><addtitle>Kidney Blood Press Res</addtitle><description>Background/Aims: Fabry disease (FD), a rare x-lined genetic disorder is a cause of renal deterioration. The phenotype of FD is highly variable and nonspecific, and correct diagnosis has always been delayed. We aimed to explore the prevalence and clinical presentation of FD in this high-risk male population in a Northern Taiwan medical center. Methods: This is the first study to survey the incidence of FD in this high-risk population through the platform of a chronic kidney disease (CKD) education program in Asia. A total of 1,012 male patients with unknown CKD causes were screened using an assay of alpha-galactosidase A activity (α-Gal A) by dried blood spots (DBS). A final GLA gene analysis was also done for those with low enzyme activity. Results: We identified two new patients with classic FD and four patients with late-onset FD. One novel GLA mutation with c.413 G>A was found in one classic FD patient (index 5). The prevalence of FD is about 0.59 % (6 in 1,012) in the high-risk population group with CKD. The clinical symptoms of FD patients are nonspecific except in those with various degrees of renal failure. Those patients’ correct diagnosis was delayed, taking years and even decades. Three patients received enzyme replacement therapy and one started regular hemodialysis due to persistent renal function deterioration. Another two patients were found from family screening through a new index. In addition, a false negative result occurred in one patient who was proved to have FD by his kidney pathology as determined by this screening. Conclusion: FD is not such as rare a disease and its prevalence is greater in this high-risk male population. Clinicians need to be aware that FD should be included in the differential diagnosis in CKD with unknown etiology.</description><subject>a-Galactosidase</subject><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>alpha-Galactosidase - blood</subject><subject>alpha-Galactosidase - genetics</subject><subject>Cardiomyopathy</subject><subject>Chronic kidney disease</subject><subject>Diagnosis</subject><subject>Diagnosis, Differential</subject><subject>Differential diagnosis</subject><subject>Education</subject><subject>Enzymatic activity</subject><subject>Enzyme activity</subject><subject>Enzymes</subject><subject>Etiology</subject><subject>Fabry disease</subject><subject>Fabry Disease - diagnosis</subject><subject>Fabry Disease - epidemiology</subject><subject>Fabry's disease</subject><subject>Galactosidase</subject><subject>Genetic disorders</subject><subject>Health care facilities</subject><subject>Hemodialysis</subject><subject>High-risk screening</subject><subject>Humans</subject><subject>Isoenzymes - blood</subject><subject>Isoenzymes - genetics</subject><subject>Kidney diseases</subject><subject>Kidney Failure, Chronic - etiology</subject><subject>Kidneys</subject><subject>Male</subject><subject>Mass Screening</subject><subject>Medical screening</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Original Paper</subject><subject>Patients</subject><subject>Phenotypes</subject><subject>Population</subject><subject>Prevalence</subject><subject>Recombinant Proteins - blood</subject><subject>Recombinant Proteins - genetics</subject><subject>Renal failure</subject><subject>Renal function</subject><subject>Renal Insufficiency, Chronic</subject><subject>Risk</subject><subject>Signs and symptoms</subject><subject>Systematic review</subject><subject>Taiwan</subject><subject>Young Adult</subject><issn>1420-4096</issn><issn>1423-0143</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2018</creationdate><recordtype>article</recordtype><sourceid>M--</sourceid><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DOA</sourceid><recordid>eNpdkkFv0zAUxyMEYmNw4I6QJS5wCNiOncTHqbQwMWDaunP04jyn3lJ72Imqfk0-Ee5aisTJlt_v_d5f8suy14x-ZEyqT5RSoURZ1U-yUyZ4kVMmiqePd5oLqsqT7EWMdwmTlPLn2UlBi5pKWZ9mv68xTsMYiTdkAW3Yks82IkQkNzogOut6Yh35DgOSq4D53HXkZoQeyTU6GI70FYwWXfJs7Lgit-7e-Y0j89H6wfdbsvBTalyugp_6FRlXqWGA0fiw3g0GMksVZzX5ZjuH_zLMu0knsXdptu8DrHdZgPzwISmCI0uwG0jpsLM6hZmlBBheZs8MDBFfHc6z7HYxX86-5pc_v1zMzi9zLQo55oCGIQitVWlQlIVRLba14YJLVFpyoSgiVK1AVpqOMVpCDUUNquw0r3RRnGUXe2_n4a55CHYNYdt4sM3jgw99A2G0esCGlthVJasF74ygTLZcV8qwtqpLxlDy5Hq_dz0E_2vCODZrGzUOAzj0U2w445WSUhYioe_-Q-_8FNJfJKqgTNGKqzpRH_aUDj7GgOYYkNFmtzTNcWkS-_ZgnNo1dkfy75Yk4M0euIfQYzgCh_4_UizGWw</recordid><startdate>20180101</startdate><enddate>20180101</enddate><creator>Lin, Cheng-Jui</creator><creator>Chien, Yin-Hsiu</creator><creator>Lai, Thung-S.</creator><creator>Shih, Hong-Mou</creator><creator>Chen, Yi-Chou</creator><creator>Pan, Chi-Feng</creator><creator>Chen, Han-Hsiang</creator><creator>Hwu, Wuh-Liang</creator><creator>Wu, Chih-Jen</creator><general>S. Karger AG</general><general>Karger Publishers</general><scope>M--</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7QL</scope><scope>7T7</scope><scope>7U9</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FD</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>C1K</scope><scope>CCPQU</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>H94</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>M7N</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>S0X</scope><scope>7X8</scope><scope>DOA</scope></search><sort><creationdate>20180101</creationdate><title>Results of Fabry Disease Screening in Male Pre-End Stage Renal Disease Patients with Unknown Etiology Found Through the Platform of a Chronic Kidney Disease Education Program in a Northern Taiwan Medical Center</title><author>Lin, Cheng-Jui ; Chien, Yin-Hsiu ; Lai, Thung-S. ; Shih, Hong-Mou ; Chen, Yi-Chou ; Pan, Chi-Feng ; Chen, Han-Hsiang ; Hwu, Wuh-Liang ; Wu, Chih-Jen</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c435t-aef1ea4cc96fe463f9beb8f2425e9c52490eea7b4e16fd1106a8a38a96dc27c33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2018</creationdate><topic>a-Galactosidase</topic><topic>Adult</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>alpha-Galactosidase - blood</topic><topic>alpha-Galactosidase - genetics</topic><topic>Cardiomyopathy</topic><topic>Chronic kidney disease</topic><topic>Diagnosis</topic><topic>Diagnosis, Differential</topic><topic>Differential diagnosis</topic><topic>Education</topic><topic>Enzymatic activity</topic><topic>Enzyme activity</topic><topic>Enzymes</topic><topic>Etiology</topic><topic>Fabry disease</topic><topic>Fabry Disease - diagnosis</topic><topic>Fabry Disease - epidemiology</topic><topic>Fabry's disease</topic><topic>Galactosidase</topic><topic>Genetic disorders</topic><topic>Health care facilities</topic><topic>Hemodialysis</topic><topic>High-risk screening</topic><topic>Humans</topic><topic>Isoenzymes - blood</topic><topic>Isoenzymes - genetics</topic><topic>Kidney diseases</topic><topic>Kidney Failure, Chronic - etiology</topic><topic>Kidneys</topic><topic>Male</topic><topic>Mass Screening</topic><topic>Medical screening</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Original Paper</topic><topic>Patients</topic><topic>Phenotypes</topic><topic>Population</topic><topic>Prevalence</topic><topic>Recombinant Proteins - blood</topic><topic>Recombinant Proteins - genetics</topic><topic>Renal failure</topic><topic>Renal function</topic><topic>Renal Insufficiency, Chronic</topic><topic>Risk</topic><topic>Signs and symptoms</topic><topic>Systematic review</topic><topic>Taiwan</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Lin, Cheng-Jui</creatorcontrib><creatorcontrib>Chien, Yin-Hsiu</creatorcontrib><creatorcontrib>Lai, Thung-S.</creatorcontrib><creatorcontrib>Shih, Hong-Mou</creatorcontrib><creatorcontrib>Chen, Yi-Chou</creatorcontrib><creatorcontrib>Pan, Chi-Feng</creatorcontrib><creatorcontrib>Chen, Han-Hsiang</creatorcontrib><creatorcontrib>Hwu, Wuh-Liang</creatorcontrib><creatorcontrib>Wu, Chih-Jen</creatorcontrib><collection>Karger Open Access</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Industrial and Applied Microbiology Abstracts (Microbiology A)</collection><collection>Virology and AIDS Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Technology Research Database</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest One Community College</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>SIRS Editorial</collection><collection>MEDLINE - Academic</collection><collection>DOAJ Directory of Open Access Journals</collection><jtitle>Kidney & blood pressure research</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Lin, Cheng-Jui</au><au>Chien, Yin-Hsiu</au><au>Lai, Thung-S.</au><au>Shih, Hong-Mou</au><au>Chen, Yi-Chou</au><au>Pan, Chi-Feng</au><au>Chen, Han-Hsiang</au><au>Hwu, Wuh-Liang</au><au>Wu, Chih-Jen</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Results of Fabry Disease Screening in Male Pre-End Stage Renal Disease Patients with Unknown Etiology Found Through the Platform of a Chronic Kidney Disease Education Program in a Northern Taiwan Medical Center</atitle><jtitle>Kidney & blood pressure research</jtitle><addtitle>Kidney Blood Press Res</addtitle><date>2018-01-01</date><risdate>2018</risdate><volume>43</volume><issue>5</issue><spage>1636</spage><epage>1645</epage><pages>1636-1645</pages><issn>1420-4096</issn><eissn>1423-0143</eissn><abstract>Background/Aims: Fabry disease (FD), a rare x-lined genetic disorder is a cause of renal deterioration. The phenotype of FD is highly variable and nonspecific, and correct diagnosis has always been delayed. We aimed to explore the prevalence and clinical presentation of FD in this high-risk male population in a Northern Taiwan medical center. Methods: This is the first study to survey the incidence of FD in this high-risk population through the platform of a chronic kidney disease (CKD) education program in Asia. A total of 1,012 male patients with unknown CKD causes were screened using an assay of alpha-galactosidase A activity (α-Gal A) by dried blood spots (DBS). A final GLA gene analysis was also done for those with low enzyme activity. Results: We identified two new patients with classic FD and four patients with late-onset FD. One novel GLA mutation with c.413 G>A was found in one classic FD patient (index 5). The prevalence of FD is about 0.59 % (6 in 1,012) in the high-risk population group with CKD. The clinical symptoms of FD patients are nonspecific except in those with various degrees of renal failure. Those patients’ correct diagnosis was delayed, taking years and even decades. Three patients received enzyme replacement therapy and one started regular hemodialysis due to persistent renal function deterioration. Another two patients were found from family screening through a new index. In addition, a false negative result occurred in one patient who was proved to have FD by his kidney pathology as determined by this screening. Conclusion: FD is not such as rare a disease and its prevalence is greater in this high-risk male population. Clinicians need to be aware that FD should be included in the differential diagnosis in CKD with unknown etiology.</abstract><cop>Basel, Switzerland</cop><pub>S. Karger AG</pub><pmid>30380558</pmid><doi>10.1159/000494678</doi><tpages>10</tpages><oa>free_for_read</oa></addata></record> |
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subjects | a-Galactosidase Adult Aged Aged, 80 and over alpha-Galactosidase - blood alpha-Galactosidase - genetics Cardiomyopathy Chronic kidney disease Diagnosis Diagnosis, Differential Differential diagnosis Education Enzymatic activity Enzyme activity Enzymes Etiology Fabry disease Fabry Disease - diagnosis Fabry Disease - epidemiology Fabry's disease Galactosidase Genetic disorders Health care facilities Hemodialysis High-risk screening Humans Isoenzymes - blood Isoenzymes - genetics Kidney diseases Kidney Failure, Chronic - etiology Kidneys Male Mass Screening Medical screening Middle Aged Mutation Original Paper Patients Phenotypes Population Prevalence Recombinant Proteins - blood Recombinant Proteins - genetics Renal failure Renal function Renal Insufficiency, Chronic Risk Signs and symptoms Systematic review Taiwan Young Adult |
title | Results of Fabry Disease Screening in Male Pre-End Stage Renal Disease Patients with Unknown Etiology Found Through the Platform of a Chronic Kidney Disease Education Program in a Northern Taiwan Medical Center |
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